A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384132



Internal ID22442002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:50725552..50928408hg38UCSC Ensembl
chr15:51017749..51220605hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38202857
hg19202857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933379
Supporting Variants
Samples
Known GenesAP4E1, SPPL2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384132
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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